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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-106437679-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=106437679&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 106437679,
"ref": "A",
"alt": "C",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_018082.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1857-2A>C",
"hgvs_p": null,
"transcript": "NM_018082.6",
"protein_id": "NP_060552.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228347.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018082.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1857-2A>C",
"hgvs_p": null,
"transcript": "ENST00000228347.9",
"protein_id": "ENSP00000228347.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018082.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228347.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1857-2A>C",
"hgvs_p": null,
"transcript": "ENST00000970165.1",
"protein_id": "ENSP00000640224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1190,
"cds_start": null,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1869-2A>C",
"hgvs_p": null,
"transcript": "ENST00000887559.1",
"protein_id": "ENSP00000557618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1137,
"cds_start": null,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887559.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1857-2A>C",
"hgvs_p": null,
"transcript": "ENST00000887556.1",
"protein_id": "ENSP00000557615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1130,
"cds_start": null,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1845-2A>C",
"hgvs_p": null,
"transcript": "ENST00000887558.1",
"protein_id": "ENSP00000557617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1129,
"cds_start": null,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887558.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1737-2A>C",
"hgvs_p": null,
"transcript": "ENST00000887555.1",
"protein_id": "ENSP00000557614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1093,
"cds_start": null,
"cds_end": null,
"cds_length": 3282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887555.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1722-2A>C",
"hgvs_p": null,
"transcript": "ENST00000970164.1",
"protein_id": "ENSP00000640223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1088,
"cds_start": null,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970164.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1695-2A>C",
"hgvs_p": null,
"transcript": "ENST00000887557.1",
"protein_id": "ENSP00000557616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1079,
"cds_start": null,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887557.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1683-2A>C",
"hgvs_p": null,
"transcript": "NM_001160708.2",
"protein_id": "NP_001154180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": null,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160708.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1683-2A>C",
"hgvs_p": null,
"transcript": "ENST00000539066.5",
"protein_id": "ENSP00000445721.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": null,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539066.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"hgvs_c": "c.1857-2A>C",
"hgvs_p": null,
"transcript": "XM_017019621.3",
"protein_id": "XP_016875110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1024,
"cds_start": null,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019621.3"
}
],
"gene_symbol": "POLR3B",
"gene_hgnc_id": 30348,
"dbsnp": "rs267608686",
"frequency_reference_population": 0.000007106136,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000716458,
"gnomad_genomes_af": 0.00000657022,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12999999523162842,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9380000233650208,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.911,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999986607513753,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PS3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PVS1_Moderate",
"PS3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_018082.6",
"gene_symbol": "POLR3B",
"hgnc_id": 30348,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1857-2A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1 O:1",
"phenotype_combined": "Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}